NM_006949.4:c.1034C>T

HGVS Expressions

  • NG_016709.1:g.11068C>T
  • NM_006949.4:c.1034C>T
  • NP_008880.2:p.Thr345Met
  • NC_000019.10:g.7643172C>T
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

194241

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.5Lebanon1Uncertain SignificanceUmar et al, 2020
249100.25Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
249100.31Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
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